Submissions for variant NM_022455.5(NSD1):c.2032A>G (p.Met678Val)

gnomAD frequency: 0.00003  dbSNP: rs773904155

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003232258	SCV001409986	benign	Sotos syndrome	2022-09-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001751466	SCV001995411	uncertain significance	not provided	2019-12-02	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001751466	SCV002011375	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003232258	SCV002054897	uncertain significance	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004751932	SCV005346405	likely benign	NSD1-related disorder	2024-05-15	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).